http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_head http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion http://identifiers.org/ncbigene/4864 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C3179455 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd34c28e3ae7c9f2fef4a836f8ff6b757 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4864 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd34c28e3ae7c9f2fef4a836f8ff6b757 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3179455 http://rdf.disgenet.org/gene-disease-association.ttl#DGNd34c28e3ae7c9f2fef4a836f8ff6b757 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion http://purl.org/dc/terms/description [The novel NPC1 mutations include 14 amino acid substitutions [R372W (c.1114C>T), P434L (c.1301C>T), C479Y (c.1436G>A), K576R (c.1727G>A), V727F (c.2179G>T), M754K (c.2261T>A), S865L (c.2594C>T), A926T (c.2776G>A), D948H (c.2842G>C), V959E (c.2876T>A), T1036K (c.3107C>A), T1066N (c.3197C>A), N1156I (c.3467A>T) and F1224L (c.3672C>G)], four stop codon [W260X (c.780G>A), S425X (c.1274C>A), C645X (c.1935T>A) and R1059X (c.3175C>T)], two donor splice-site mutations [IVS7+1G>A (g.31432G>A) and IVS21+2insG (g.51871insG)], one in-frame mutation [N961_F966delinsS (c.2882del16bpins1bp)] and five frameshift mutations [V299fsX8 (c.895insT), A558fsX11 (c.1673insG), C778fsX10 (c.2334insT), G993fsX3 (c.2973_78delG) and F1221fsX20 (c.3662delT)].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16098014 http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724 http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000218 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000205 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724 http://purl.org/pav/2.0/importedOn 2013-07-24 http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://purl.org/dc/terms/created 2014-10-02T12:32:00+02:00 http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP4559.RAXrCXJXZz9db2lpF1hsIl962jOHlGWrWAiaUivR7Qcgc http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0